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September 8, 2014

This study tries to quantify individual ancestry in Italians by using a small panel of autosomal markers that are known to produce errors and overestimate admixture compared with using the full SNP data set, and as a result it comes up with estimates of Sub-Saharan African admixture in Italy and elsewhere in Europe that are much higher than in any other study:

A panel of 52 AIMs was genotyped in 435 Italian individuals in order to estimate the proportion of ancestry from a three-way differentiation: sub-Saharan Africa, Europe and Asia. Structure analyses allowed us to infer membership proportions in population samples, and these proportions can be graphically displayed, as in Figure 2. This analysis indicated that Italians have a basal proportion of sub-Saharan ancestry that is higher (9.2%, on average) than other central or northern European populations (1.5%, on average). The amount of African ancestry in Italians is however more comparable to (but slightly higher than) the average in other Mediterranean countries (7.1%).

The authors go on to say that Sub-Saharan African admixture in Italy is also evident in uniparental markers, but they should've been suspicious of their high AIM-based estimate when they found only 1.2% mtDNA haplogroup L and no A, B or E(xE3b) Y-DNA, which leads to an admixture estimate (0.6%) that's 15 times lower.

They also should've been puzzled by other bizarre results in their structure analysis, like African admixture appearing higher in Northern and Central Italy than in Southern Italy, with an equally high amount in Britain and Japan, and a very high Asian component in Central and Southern Italians that other Europeans don't have:

52 AIMs

Indeed, when we look at many of the same and similar populations tested using 291,184 SNPs in Lazaridis et al. (2014), we can see that the pattern is totally different and fits much better with the uniparental data and known reality. Italians only have a drop (<1%) of African admixture, which is highest in the south, while the British and Japanese don't have any at all, and Asian admixture is expectedly higher in Northern and Eastern Europe than it is in Southern Europe:

291,184 SNPs

These two very different results highlight the importance of using all genome-wide data when estimating individual ancestry and admixture proportions.